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ORIGINAL ARTICLE Molecular population genetics of SLC4A1 and

Molecular population genetics of SLC4A1 and
Southeast Asian Ovalocytosis
Jason A Wilder1,2, Jonathan A Stone2, Elizabeth G Preston2, Lauren E Finn2, Hannah L Ratcliffe2
and Herawati Sudoyo3
Southeast Asian ovalocytosis (SAO) is an erythrocyte abnormality that protects affected individuals from cerebral malaria. This
trait is caused by a 27-bp deletion in the SLC4A1 gene, which is lethal when homozygous. We reseqeunced approximately 5 kb
of SLC4A1 in an Indonesian population where SAO is prevalent to better understand the evolution of this clinically important
trait. The four SAO chromosomes we resequenced share a single haplotype that differs from a sampled non-SAO haplotype only
by the 27-bp deletion. Comparison of Indonesian sequence data to that from two other Asian populations (aboriginal Taiwanese
and Japanese) shows Indonesian SLC4A1 to be strongly differentiated from the Taiwanese, but not the Japanese. Indeed, the
Taiwanese sample contains only chromosomes that are highly divergent from all sampled SAO chromosomes. Because earlier
studies have found an association between Austronesian-speakers (who most likely originated in Taiwan) and SAO, our failure
to find SAO-like chromosomes in Taiwan is unexpected. Finally, our data find a strong excess of high-frequency derived alleles
in all three populations. These alleles include the non-synonymous `Memphis' variant, which is known to affect anion transport
across the erythrocyte membrane. Our data suggest a role for recent natural selection acting on Memphis or a linked variant.
Journal of Human Genetics advance online publication, 20 February 2009; doi:10.1038/jhg.2009.12
Keywords: evolution; Memphis; molecular population genetics; SLC4A1; Southeast Asian ovalocytosis
Southeast Asian ovalocytosis (SAO) is a hereditary condition asso-


Source: Allan, Gery - Department of Biological Sciences, Northern Arizona University


Collections: Biology and Medicine; Environmental Sciences and Ecology